MCID: RRM004
MIFTS: 18

Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

MalaCards integrated aliases for Rrm2b-Related Mitochondrial Dna Depletion Syndrome:

Name: Rrm2b-Related Mitochondrial Dna Depletion Syndrome 53
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 29 6
Mitochondrial Dna Depletion Syndrome 8a 53 73
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 53
Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy 53
Encephalomyopathic Type with Renal Tubulopathy 53

Classifications:



External Ids:

UMLS 73 C3711125

Summaries for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

MalaCards based summary : Rrm2b-Related Mitochondrial Dna Depletion Syndrome, also known as mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy, is related to mitochondrial dna depletion syndrome 8a and rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy, and has symptoms including seizures, gait ataxia and cachexia. An important gene associated with Rrm2b-Related Mitochondrial Dna Depletion Syndrome is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Affiliated tissues include liver, bone and eye.

Related Diseases for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Symptoms & Phenotypes for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

UMLS symptoms related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome:


seizures, gait ataxia, cachexia

Drugs & Therapeutics for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Search Clinical Trials , NIH Clinical Center for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Genetic Tests for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Genetic tests related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy 29 RRM2B

Anatomical Context for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

MalaCards organs/tissues related to Rrm2b-Related Mitochondrial Dna Depletion Syndrome:

41
Liver, Bone, Eye

Publications for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Variations for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

ClinVar genetic disease variations for Rrm2b-Related Mitochondrial Dna Depletion Syndrome:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh37 Chromosome 8, 103225057: 103225057
2 RRM2B NM_015713.4(RRM2B): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs121918307 GRCh38 Chromosome 8, 102212829: 102212829
3 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh37 Chromosome 8, 103237248: 103237248
4 RRM2B NM_015713.4(RRM2B): c.322-2A> G single nucleotide variant Pathogenic rs515726185 GRCh38 Chromosome 8, 102225020: 102225020
5 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh37 Chromosome 8, 103231146: 103231146
6 RRM2B NM_015713.4(RRM2B): c.580G> A (p.Glu194Lys) single nucleotide variant Pathogenic rs121918308 GRCh38 Chromosome 8, 102218918: 102218918
7 RRM2B RRM2B, 3-BP DEL, 253GAG deletion Pathogenic
8 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh37 Chromosome 8, 103226364: 103226364
9 RRM2B NM_015713.4(RRM2B): c.707G> T (p.Cys236Phe) single nucleotide variant Pathogenic rs121918309 GRCh38 Chromosome 8, 102214136: 102214136
10 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh37 Chromosome 8, 103226385: 103226385
11 RRM2B NM_015713.4(RRM2B): c.686G> T (p.Gly229Val) single nucleotide variant Pathogenic rs121918311 GRCh38 Chromosome 8, 102214157: 102214157
12 RRM2B NM_015713.4(RRM2B): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs515726181 GRCh37 Chromosome 8, 103244460: 103244460
13 RRM2B NM_015713.4(RRM2B): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs515726181 GRCh38 Chromosome 8, 102232232: 102232232
14 RRM2B NM_015713.4(RRM2B): c.671T> G (p.Ile224Ser) single nucleotide variant Pathogenic/Likely pathogenic rs515726196 GRCh37 Chromosome 8, 103231055: 103231055
15 RRM2B NM_015713.4(RRM2B): c.671T> G (p.Ile224Ser) single nucleotide variant Pathogenic/Likely pathogenic rs515726196 GRCh38 Chromosome 8, 102218827: 102218827
16 RRM2B NM_015713.4(RRM2B): c.662A> G (p.Asn221Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863224193 GRCh37 Chromosome 8, 103231064: 103231064
17 RRM2B NM_015713.4(RRM2B): c.662A> G (p.Asn221Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863224193 GRCh38 Chromosome 8, 102218836: 102218836
18 RRM2B NM_015713.4(RRM2B): c.635_636insAAG (p.Gly212_Leu213insSer) insertion Likely pathogenic rs863224914 GRCh37 Chromosome 8, 103231090: 103231091
19 RRM2B NM_015713.4(RRM2B): c.635_636insAAG (p.Gly212_Leu213insSer) insertion Likely pathogenic rs863224914 GRCh38 Chromosome 8, 102218862: 102218863

Expression for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Search GEO for disease gene expression data for Rrm2b-Related Mitochondrial Dna Depletion Syndrome.

Pathways for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

GO Terms for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Sources for Rrm2b-Related Mitochondrial Dna Depletion Syndrome

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